Variant Details for SET
Basic Information Top
| Gene Symbol: | SET ( 2PP2A,I2PP2A,IGAAD,IPP2A2,PHAPII,TAF-I,TAF-IBETA ) |
|---|---|
| Gene Full Name: | SET nuclear oncogene |
| Band: | 9q34.11 |
| Quick Links | Entrez ID:6418; OMIM: 600960; Uniprot ID:SET_HUMAN; ENSEMBL ID: ENSG00000119335; HGNC ID: 10760 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 6 | 3 | 0 | 0 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000547 | 9 | 9q34.11 | 130913685 | 131600376 | 686691 | loss | external link | Gregory, 2009 |
| AutCNV0000546 | 9 | 9q33.3-34.11 | 130027701 | 132620709 | 2593008 | loss | external link | Gregory, 2009 |
| AutCNV0000545 | 9 | 9q33.3-34.11 | 129888266 | 132486991 | 2598725 | loss | external link | Gregory, 2009 |
| AutCNV0000548 | 9 | 9q34.11 | 131053252 | 132486991 | 1433739 | gain | external link | Gregory, 2009 |
| AutCNV0004285 | 9 | 9q34.11 | 130869558 | 131469287 | 599729 | gain | external link | Sanders, 2011 |
| AutCNV0003822 | 9 | 9q34.11 | 130868096 | 131472539 | 604443 | gain | external link | Levy, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 131454235 | A | G | PCR or Sanger sequencing | neutral | 0.1511 | Iossifov I, 2014 | ||
| 9 | 131446286 | G | C | HiSeq X and Sanger | neutral | 0.3018 | C Yuen RK, 2017 | ||
| 9 | 131446286 | G | C | HiSeq X and Sanger | neutral | 0.3018 | C Yuen RK, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||